This is the story of my youngest son John, who was diagnosed with porphyria at age 14. He is now 20.
John was very fair from his earliest years. Living in Southern California, we noticed he would not stay in the sun for any long periods of time, hated going to the beach and did not enjoy many outside activities. We knew something was very wrong when at age four he went on a camping trip with his grandparents, who brought him back after two days saying "there is something wrong with him." John had screamed for the entire two days saying he was "burning" and there wasn't a mark on him. We took him to the pediatrician, who referred us to a dermatologist. There were no allergies and no real explanations for John's feeling of his skin burning, but it happened when he was in the sun longer than a few minutes at a time. This led us to bring him to a few child psychologists and psychiatrists, thinking he might have some psychological problems.
The next few years were very rough on John, especially in summer camps and gym classes. We were met with many a blank stare when we tried to explain John's skin condition. We did not have a doctor's note stating that John had a disease or even giving his condition a name, so having him excused from outside activities in gym class was darn near impossible. John spent many a sleepless night in front of a fan with cold packs on his hands and forehead.
We finally had a breakthrough when John was in eighth grade. He had joined the Sea Cadets and was going through their spring "boot camp." John tried his best to complete the training, but on the third day in he almost landed in the hospital. He had passed out in the heat and the doctor thought he had heat exhaustion. He had developed a strange rash on his face, especially around his mouth. We took pictures of the strange rash and made yet another dermatology appointment. This time we lucked out. The doctor had just been to a conference and one of the topics was rare skin conditions, including porphyria. He thought this might be what John had been suffering from all this time. Many, many blood tests and many trips to UCLA Medical Center later, John was finally diagnosed with Erythropoietic Protoporphyria (EPP).
After ten years of frustration and second-guessing ourselves, we finally had an answer! John was not crazy and he did not have allergies, he had a rare condition!
John now manages his condition by covering up and by doing outside activities in the early morning or early evening, and he lathers up with sun screen. He is a happy college student who recently even participated in a triathlon!